aniridia
Information
- Disease name
- aniridia
- Disease ID
- DOID:12271
- Description
- "An iris disease that is characterized by a complete or partial absence of the colored part of the eye." [url:https\://medlineplus.gov/genetics/condition/aniridia/]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02647359 | Completed | Phase 2 | Study of Ataluren in Participants With Nonsense Mutation Aniridia | January 31, 2016 | January 22, 2021 |
| NCT00265590 | Completed | Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia | December 7, 2005 | October 3, 2008 | |
| NCT00001161 | Completed | Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens | July 1977 | August 2002 | |
| NCT00758108 | Completed | Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions | September 11, 2008 | April 29, 2015 | |
| NCT00812708 | Completed | N/A | Clinical Evaluation of Morcher Artificial Iris Diaphragms | April 9, 2003 | December 7, 2021 |
| NCT01644552 | Completed | Positive Angle Kappa | August 2010 | September 2011 | |
| NCT03581864 | Completed | Clinical Outcomes of Implantationof Black Diaphragm Intraocular Lens in Complete Aniridia and Aphakia Due to Posttraumatic Eye Rupture | January 1, 2006 | May 1, 2018 | |
| NCT06412718 | Not yet recruiting | Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies | May 2024 | April 2026 | |
| NCT05562115 | Recruiting | N/A | Proteomic Study of Tears From Patients With a PAX6 Mutation | February 9, 2023 | August 2024 |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
| NCT05954403 | Recruiting | National Cohort on Congenital Defects of the Eye | July 11, 2017 | July 2037 | |
| NCT05044598 | Recruiting | Phase 1/Phase 2 | RAFT - Clinical Trial of RAFT for Aniridia Related Keratopathy | July 28, 2021 | May 31, 2025 |
| NCT05400590 | Recruiting | Comparison of the Healing Properties on Corneal Cells of Groth Factor-enriched Plasma and Autologous Serum From Aniridia Patients | May 15, 2023 | September 2025 | |
| NCT00503893 | Unknown status | Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies | December 1, 1980 | December 2020 | |
| NCT03461978 | Unknown status | N/A | Ultrahigh-resolution Optical Coherence Tomography Imaging of the Anterior Eye Segment Structures | July 12, 2017 | October 2023 |
| NCT04117880 | Withdrawn | Phase 2 | A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia | December 31, 2018 | January 31, 2021 |
- Disase is a (Disease Ontology)
- DOID:240
- Cross Reference ID (Disease Ontology)
- GARD:5816
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q13.1
- Cross Reference ID (Disease Ontology)
- ICD9CM:743.45
- Cross Reference ID (Disease Ontology)
- MESH:D015783
- Cross Reference ID (Disease Ontology)
- MIM:PS106210
- Cross Reference ID (Disease Ontology)
- NCI:C84563
- Cross Reference ID (Disease Ontology)
- ORDO:250923
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:69278003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0003076
- Exact Synonym (Disease Ontology)
- Aplasia of iris
- Exact Synonym (Disease Ontology)
- isolated aniridia
- HPO alt_id (Human Phenotype Ontology)
- HP:0011498
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0000526
- OMIM Phenotype Series Number (OMIM)
- PS106210
- OrphaNumber from OrphaNet (Orphanet)
- 77
- MeSH unique ID (MeSH (Medical Subject Headings))
- D015783